nsv3915645
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:988,719
- Description:GRCh38/hg38 12q24.31(chr12:121471000-122459718)x1 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 3932 SVs from 89 studies. See in: genome view
Overlapping variant regions from other studies: 3769 SVs from 88 studies. See in: genome view
Overlapping variant regions from other studies: 707 SVs from 19 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3915645 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 121,471,000 | 122,459,718 |
| nsv3915645 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 121,956,483 | 122,944,265 |
| nsv3915645 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000012.10 | Chr12 | 120,393,186 | 121,510,218 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15132394 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000051344.4, VCV000057611.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15132394 | Submitted genomic | NC_000012.12:g.(?_ 121471000)_(122459 718_?)del | GRCh38 (hg38) | NC_000012.12 | Chr12 | 121,471,000 | 122,459,718 |
| nssv15132394 | Submitted genomic | NC_000012.11:g.(?_ 121956483)_(122944 265_?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 121,956,483 | 122,944,265 |
| nssv15132394 | Submitted genomic | NC_000012.10:g.(?_ 120393186)_(121510 218_?)del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 120,393,186 | 121,510,218 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15132394 | GRCh37: NC_000012.11:g.(?_121956483)_(122944265_?)del, GRCh38: NC_000012.12:g.(?_121471000)_(122459718_?)del, NCBI36: NC_000012.10:g.(?_120393186)_(121510218_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000051344.4, VCV000057611.1 | 1 |